A year-long screening for rare diseases in 10 wards of Calcutta found 11 persons with rare diseases and 15 more who are suspected to have the diseases.
The screening began in January 2025.
Among the rare diseases identified in the 11 persons are Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA), Noonan syndrome and Hunter syndrome — both genetic conditions.
The primary screening involved interviewing families using a 32-question survey.
“ASHA workers were trained on how to ask the questions and prepare a scoresheet based on the responses of the families. Based on the scoresheet, 72 families were identified to be at risk. Some of them, based on the risk assessment, were called over to KMC clinics,” said Dipanjana Datta, a medical geneticist and state coordinator of Organisation for Rare Diseases India (ORDI).
ORDI and Rare Warriors of Bengal Association (RWBA) joined hands with the Kolkata Municipal Corporation (KMC) to conduct the month-long screening.
Datta said that of the 11 persons identified with rare diseases, not all came for follow-up treatment.
“About four of them are continuing with the follow-up treatment. They are being sent to SSKM Hospital for treatment,” she said.
Datta said two of those screened during the year-long programme had their first child born with rare diseases.
“The couples were planning a second child. We counselled and helped them through the pregnancy period. We helped them conduct prenatal screenings. Both of them gave birth to healthy babies,” she said.
Sources said there were 15 persons suspected of having rare diseases, but the paucity of funds prevented their screening tests. “They will undergo screening tests, subject to funds being available,” said a source.
Datta said there were some tests that are not available in government hospitals. Doing those tests — enzyme tests or a sleep study — costs several thousand rupees, and many poor families cannot afford the tests.
Atin Ghosh, Calcutta’s deputy mayor, requested ORDI and RWBA to expand the screening programme to more wards.
“I have requested them to expand the screening programme to all 144 wards’ health clinics, and 36 health and wellness clinics. Since the primary screening is based on a set of questionnaires, they can train the medical officers in these health units. This will help identify more people with rare diseases,” Ghosh, who also heads KMC’s health department, said.
Priyadarshini Ghosh Bawa, associated with ORDI and RWBA, stressed the need to widen the screening network.
“Many cases go undetected and untreated due to a lack of screening. Early detection can improve life expectancy in children. We are also appealing for more CSR donations,” she said.